ZDHHC4
Zinc Finger DHHC-Type Palmitoyltransferase 4
Gene Information Card
| Symbol | ZDHHC4 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 25923 ncbi.nlm.nih.gov/gene/25923 |
| Ensembl ID | ENSG00000106484 |
| UniProt ID | Q9NPG8 |
| OMIM ID | 618864 |
| HGNC ID | 20742 |
| Aliases | DHHC4, ZNF374 |
Description
ZDHHC4 encodes a member of the DHHC family of zinc finger proteins that function as palmitoyltransferases, catalyzing the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein localization, stability, and function. ZDHHC4 is involved in various cellular processes including signal transduction, vesicle trafficking, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered palmitoylation of oncogenic or tumor suppressor proteins | COSMIC; somatic mutations and copy number alterations reported |
| Neurodevelopmental disorders | Impaired palmitoylation of synaptic proteins | OMIM; rare variants associated with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| SH-SY5Y | 11.2 | Neuronal cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | <0.01% | Unknown functional impact |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted loss of palmitoyltransferase activity for some missense variants.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Zinc ion binding |
| • Protein palmitoylation | • Membrane |
| • Endoplasmic reticulum |
Pathways
• Protein palmitoylation
• Ras signaling (indirect)
Protein Summary
ZDHHC4 is a 364-amino acid integral membrane protein localized to the endoplasmic reticulum and Golgi apparatus. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for its palmitoyltransferase activity. The protein is ubiquitously expressed with highest levels in brain and testis. Substrates include neuronal proteins such as PSD-95 and GAP-43, implicating ZDHHC4 in synaptic plasticity and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC4 Knockout HEK293 Cell Line | EDJ-KQ3100 | Human | 55146 | Details Get a Quote |
| ZDHHC4 Knockout A-549 Cell Line | EDJ-KQ24429 | Human | 55146 | Details Get a Quote |
| ZDHHC4 Knockout HCT 116 Cell Line | EDJ-KQ24430 | Human | 55146 | Details Get a Quote |
| ZDHHC4 Knockout HeLa Cell Line | EDJ-KQ24431 | Human | 55146 | Details Get a Quote |